Usher Syndrome / Posted 2 years ago

RUSH2A: Rate of Progression in USH2A Related Retinal Degeneration

The overall goal of this project funded by the Foundation Fighting Blindness is to characterize the natural history of disease progression in patients with USH2A related retinal degeneration associated with congenital hearing loss (Usher syndrome type 2a) or non-syndromic retinitis pigmentosa (RP39).

  • Inclusion Criteria : Participants with clinical diagnosis of rod-cone degeneration and at least 2 pathogenic or likely pathogenic mutations in USH2A gene; age ≥ 8 years
  • Exclusion Criteria : Mutations in genes that cause autosomal dominant RP, X-linked RP, or presence of biallelic mutations in autosomal recessive RP/retinal dystrophy genes other than USH2A; Expected to enter experimental treatment trial at any time during this study; History of more than 1 year of cumulative treatment, at any time, with an agent 431 associated with pigmentary retinopathy.
  • Study start date : 01/08/2017
  • Study end date : 31/12/2021
  • Wales-Based Study Contact : Not recruiting in Wales
Contact details


No post found